Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease | Zendy

Jonathan L. Moskowitz | Zendy; Siân E. Piret | Zendy; Karl Lhotta | Zendy; Thomas M. Kitzler | Zendy; Adam P. Tashman | Zendy; Erin Velez | Zendy; Rajesh V. Thakker | Zendy; Peter Kotanko | Zendy

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Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

Author(s) -

Jonathan L. Moskowitz,

Siân E. Piret,

Karl Lhotta,

Thomas M. Kitzler,

Adam P. Tashman,

Erin Velez,

Rajesh V. Thakker,

Peter Kotanko

Publication year - 2013

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.11151012

Subject(s) - tamm–horsfall protein , medicine , hyperuricemia , gout , genotype , disease , proportional hazards model , kidney disease , uric acid , kidney , genetics , biology , gene

Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD.

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